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  1. AU="Kohaut, Eva"
  2. AU="Adam F. Cohen"
  3. AU="Daniele Tomassoni"
  4. AU="Bergado, Gretchen"
  5. AU="Schomberg, Harry H"
  6. AU="Halder, Prolay"
  7. AU="Miyaguchi, Ken"
  8. AU="Zhan, Na-ping"
  9. AU="Stewart Quigg"

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  1. Artikel ; Online: Chirurgische Therapie des Urethralprolaps.

    Khoja, Safwan / Arafat, Wasseem / Kohaut, Eva / Horstmann, Marcus

    Aktuelle Urologie

    2021  Band 53, Heft 6, Seite(n) 535–539

    Abstract: Urethral prolapses in humans are rare. Urethral caruncula are more frequent. Caruncula originate from the dorsal external layer of the urethral meatus. We report on the surgical approach used for the resection of a huge urethral prolapse in a ... ...

    Titelübersetzung Surgical treatment of urethral prolapse.
    Abstract Urethral prolapses in humans are rare. Urethral caruncula are more frequent. Caruncula originate from the dorsal external layer of the urethral meatus. We report on the surgical approach used for the resection of a huge urethral prolapse in a postmenopausal woman with chronic constipation using the four-quadrants resection technique. After the procedure, the patient was quickly relieved from pain and micturition was improved. The patient was fully continent. Alternative treatments to surgical resection include conservative approaches with sitz baths and oestrogen cremes, manual reduction under general anaesthesia and ligation of the prolapse around a transurethral bladder catheter.
    Mesh-Begriff(e) Female ; Humans ; Urethral Diseases/surgery ; Prolapse ; Urethra/surgery ; Urethral Neoplasms ; Ligation
    Sprache Deutsch
    Erscheinungsdatum 2021-04-14
    Erscheinungsland Germany
    Dokumenttyp English Abstract ; Journal Article
    ZDB-ID 124847-9
    ISSN 1438-8820 ; 0001-7868
    ISSN (online) 1438-8820
    ISSN 0001-7868
    DOI 10.1055/a-1351-8900
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Chirurgische Therapie des Urethralprolaps

    Khoja, Safwan / Arafat, Wasseem / Kohaut, Eva / Horstmann, Marcus

    Aktuelle Urologie

    2021  Band 53, Heft 06, Seite(n) 535–539

    Abstract: Der zirkuläre Prolaps der inneren Urethralschleimhaut ist ein seltener Befund. Häufiger treten Harnröhrenkarunkel auf, die sich meist aus der dorsalen externen Lippe des Meatus entwickeln. Wir berichten über die chirurgische Resektionstechnik mit ... ...

    Abstract Der zirkuläre Prolaps der inneren Urethralschleimhaut ist ein seltener Befund. Häufiger treten Harnröhrenkarunkel auf, die sich meist aus der dorsalen externen Lippe des Meatus entwickeln. Wir berichten über die chirurgische Resektionstechnik mit Quadrantenresektion bei einer postmenopausalen Patientin mit einem ausgeprägten Urethralprolaps und chronischer Obstipation. Durch die Operation wurde eine schnelle Schmerzfreiheit und Verbesserung der Miktion erzielt. Die Kontinenz blieb erhalten. Alternative Therapien zur Resektion sind konservative Therapieversuche mit Sitzbädern und oestrogenhaltigen Salben, manuelle Reposition in Narkose und die zirkuläre Ligatur des Prolapses um einen liegendem transurethralen Blasenkatheter.
    Schlagwörter Urethralprolaps ; Chirurgische Therapie ; Harnröhrenkarunkel ; surgical treatment ; urethral caruncle ; urethral prolapse
    Sprache Deutsch
    Erscheinungsdatum 2021-04-14
    Verlag Georg Thieme Verlag KG
    Erscheinungsort Stuttgart ; New York
    Dokumenttyp Artikel
    ZDB-ID 124847-9
    ISSN 1438-8820 ; 0001-7868
    ISSN (online) 1438-8820
    ISSN 0001-7868
    DOI 10.1055/a-1351-8900
    Datenquelle Thieme Verlag

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  3. Artikel ; Online: Morphological and genetic causes of fetal cardiomyopathies.

    Kohaut, Eva / Ader, Flavie / Rooryck, Caroline / Pelluard, Fanny / Bonnière, Maryse / André, Gwenaelle / Sauvestre, Fanny / Roth, Philippe / Khraiche, Diala / Bessières, Bettina / Attié-Bitach, Tania / Richard, Pascale

    Clinical genetics

    2023  Band 104, Heft 1, Seite(n) 63–72

    Abstract: Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal ... ...

    Abstract Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co-dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy.
    Mesh-Begriff(e) Pregnancy ; Humans ; Female ; Cardiomyopathies/diagnosis ; Genetic Testing ; Mutation ; Phenotype ; Genetic Counseling
    Sprache Englisch
    Erscheinungsdatum 2023-05-20
    Erscheinungsland Denmark
    Dokumenttyp Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14333
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

    Bizaoui, Varoona / Huber, Céline / Kohaut, Eva / Roume, Joelle / Bonnière, Maryse / Attié-Bitach, Tania / Cormier-Daire, Valérie

    American journal of medical genetics. Part A

    2019  Band 179, Heft 4, Seite(n) 639–644

    Abstract: We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value ... ...

    Abstract We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.
    Mesh-Begriff(e) Carrier Proteins/genetics ; Female ; Fetus/abnormalities ; Fetus/metabolism ; Fetus/pathology ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Prenatal Diagnosis ; Short Rib-Polydactyly Syndrome/genetics ; Short Rib-Polydactyly Syndrome/pathology
    Chemische Substanzen Carrier Proteins ; IFT80 protein, human
    Sprache Englisch
    Erscheinungsdatum 2019-02-14
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.61050
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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